Diagnosis of two cases with 7p11.22 microdeletion by applying array-based comparative genomic hybridization.

WU Bin-bin; XU Ke-qian

doi:10.11852/zgetbjzz2015-23-08-34

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Chinese Journal of Child Health Care ›› 2015, Vol. 23 ›› Issue (8) : 885-887. DOI: 10.11852/zgetbjzz2015-23-08-34

Diagnosis of two cases with 7p11.22 microdeletion by applying array-based comparative genomic hybridization.

WU Bin-bin^1,2,XU Ke-qian¹

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Abstract

Objective To investigate the diagnosis of 2 cases with 7q11.22 microdeletion by applying array based comparative genomic hybridization (aCGH) and to analyze the relationship between the clinical manifestations and 7q11.22 microdeletion. Method The aCGH technique was used to detect genomic copy number variations (CNVs) in 2 cases with normal karyotype after conventional chromosomal karyotyping. Result The aCGH detected 7q11.22 deletion (chr7:69479621-69539140 and chr7:69945652-70019838),which was confirmed as pathogenic CNV after comparative analysis with database. Conclusion The array-CGH could serve as a useful complement for G-banding and to be used in the clinical cytogenetic diagnosis.

Key words

array based comparative genomic hybridization / 7q11.22 / copy number variations / karyotype

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WU Bin-bin,XU Ke-qian. Diagnosis of two cases with 7p11.22 microdeletion by applying array-based comparative genomic hybridization.[J]. Chinese Journal of Child Health Care. 2015, 23(8): 885-887 https://doi.org/10.11852/zgetbjzz2015-23-08-34

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